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HYLS1 encodes a protein localized to the cytoplasm. Additionally we are shipping Hydrolethalus Syndrome 1 Proteins (7) and Hydrolethalus Syndrome 1 Kits (3) and many more products for this protein.
Showing 10 out of 14 products:
Cow (Bovine) Polyclonal HYLS1 Primary Antibody for WB - ABIN2786214
Mee, Honkala, Kopra, Vesa, Finnilä, Visapää, Sang, Jackson, Salonen, Kestilä, Peltonen: Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1. in Human molecular genetics 2005
The homozygous mutation of the hydrolethalus syndrome 1 gene (HYLS1) was identified in a consanguinity family in a 17 year old male and his 11 year old younger brother.
Despite variation in the clinicopathologic phenotype, all cases in the series carried the same homozygous missense mutation in HYLS1
This gene encodes a protein localized to the cytoplasm. Mutations in this gene are associated with hydrolethalus syndrome. Multiple alternatively spliced variants, encoding the same protein, have been identified.
hydrolethalus syndrome 1
, hydrolethalus syndrome protein 1
, hydrolethalus syndrome protein 1 homolog